Disease: Noonan Syndrome 1 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		0.910 GeneticVariation disease CLINVAR Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders. 31064749 2019
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		0.910 CausalMutation disease CLINVAR Novel mutations and their genotype-phenotype correlations in patients with Noonan syndrome, using next-generation sequencing. 28957739 2018
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		0.910 Biomarker disease GENOMICS_ENGLAND Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder. 30266093 2018
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		0.910 CausalMutation disease CLINVAR Craniosynostosis in patients with RASopathies: Accumulating clinical evidence for expanding the phenotype. 28650561 2017
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		0.910 CausalMutation disease CLINVAR Noonan syndrome with multiple lentigines with PTPN11 (T468M) gene mutation accompanied with solitary granular cell tumor. 28681392 2017
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		0.910 CausalMutation disease CLINVAR Cochlear implantation and clinical features in patients with Noonan syndrome and Noonan syndrome with multiple lentigines caused by a mutation in PTPN11. 28483241 2017
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		0.910 Biomarker disease GENOMICS_ENGLAND Craniosynostosis in patients with RASopathies: Accumulating clinical evidence for expanding the phenotype. 28650561 2017
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		0.910 GeneticVariation disease UNIPROT Structural, Functional, and Clinical Characterization of a Novel PTPN11 Mutation Cluster Underlying Noonan Syndrome. 28074573 2017
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		0.910 CausalMutation disease CLINVAR Ocular Manifestations of Noonan Syndrome: A Prospective Clinical and Genetic Study of 25 Patients. 27521173 2016
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		0.910 CausalMutation disease CLINVAR Lentiginous phenotypes caused by diverse pathogenic genes (SASH1 and PTPN11): clinical and molecular discrimination. 27659786 2016
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		0.910 CausalMutation disease CLINVAR Multiple giant cell lesions in a patient with Noonan syndrome with multiple lentigines. 27238887 2016
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		0.910 CausalMutation disease CLINVAR De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies. 26785492 2015
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		0.910 CausalMutation disease CLINVAR [Arnold-Chiari malformation in Noonan syndrome and other syndromes of the RAS/MAPK pathway]. 25912702 2015
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		0.910 GeneticVariation disease UNIPROT A PTPN11 allele encoding a catalytically impaired SHP2 protein in a patient with a Noonan syndrome phenotype. 24891296 2014
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		0.910 CausalMutation disease CLINVAR LEOPARD syndrome: clinical dilemmas in differential diagnosis of RASopathies. 24767283 2014
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		0.910 CausalMutation disease CLINVAR Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutations. 24803665 2014
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		0.910 CausalMutation disease CLINVAR Structural insights into Noonan/LEOPARD syndrome-related mutants of protein-tyrosine phosphatase SHP2 (PTPN11). 24628801 2014
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		0.910 Biomarker disease GENOMICS_ENGLAND The RASopathies. 23875798 2013
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		0.910 CausalMutation disease CLINVAR Age-dependent germline mosaicism of the most common noonan syndrome mutation shows the signature of germline selection. 23726368 2013
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		0.910 CausalMutation disease CLINVAR The PTPN11 loss-of-function mutation Q510E-Shp2 causes hypertrophic cardiomyopathy by dysregulating mTOR signaling. 22058153 2012
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		0.910 CausalMutation disease CLINVAR Lethal presentation of neurofibromatosis and Noonan syndrome. 21567923 2011
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		0.910 CausalMutation disease CLINVAR Cancer risk in patients with Noonan syndrome carrying a PTPN11 mutation. 21407260 2011
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		0.910 CausalMutation disease CLINVAR LEOPARD syndrome in an infant with severe hypertrophic cardiomyopathy and PTPN11 mutation. 21677813 2011
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		0.910 CausalMutation disease CLINVAR LEOPARD-type SHP2 mutant Gln510Glu attenuates cardiomyocyte differentiation and promotes cardiac hypertrophy via dysregulation of Akt/GSK-3β/β-catenin signaling. 21803945 2011
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		0.910 CausalMutation disease CLINVAR Functional effects of PTPN11 (SHP2) mutations causing LEOPARD syndrome on epidermal growth factor-induced phosphoinositide 3-kinase/AKT/glycogen synthase kinase 3beta signaling. 20308328 2010